Canonical Allele Identifier: CA379787749

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395858-A-G
• MyVariant Identifiers: chr11:g.17417405A>G (hg19) ; chr11:g.17395858A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395858A>G , CM000673.2:g.17395858A>G	GRCh38
NC_000011.9:g.17417405A>G , CM000673.1:g.17417405A>G	GRCh37
NC_000011.8:g.17373981A>G	NCBI36
NG_008867.1:g.86045T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3793T>C
ENST00000528374.2:c.783T>C
ENST00000529967.6:n.2531T>C
ENST00000532220.2:n.3425T>C
ENST00000642611.2:n.5392T>C
ENST00000644057.2:n.635T>C
ENST00000645004.2:n.1691T>C
ENST00000682051.1:n.4354T>C
ENST00000682110.1:n.4407T>C
ENST00000682140.1:c.4058T>C	ENSP00000507829.1:p.Val1353Ala
ENST00000682185.1:n.5497T>C
ENST00000682204.1:c.*2330T>C	ENSP00000507094.1:n.*2330T>C
ENST00000682215.1:n.4774T>C
ENST00000682288.1:c.*2623T>C	ENSP00000507506.1:n.*2623T>C
ENST00000682442.1:n.4627T>C
ENST00000682528.1:n.4484T>C
ENST00000682673.1:n.4351T>C
ENST00000682805.1:n.4812T>C
ENST00000682965.1:c.*614T>C	ENSP00000508229.1:n.*614T>C
ENST00000683093.1:n.5491T>C
ENST00000683136.1:c.4075T>C	ENSP00000507768.1:p.Phe1359Leu
ENST00000683153.1:n.4449T>C
ENST00000683365.1:n.4509T>C
ENST00000683377.1:n.4407T>C
ENST00000683456.1:c.*1329T>C	ENSP00000508318.1:n.*1329T>C
ENST00000683522.1:n.4407T>C
ENST00000683562.1:c.*2361T>C	ENSP00000508265.1:n.*2361T>C
ENST00000683693.1:n.5839T>C
ENST00000683725.1:c.4192T>C	ENSP00000507496.1:p.Phe1398Leu
ENST00000684010.1:n.4402T>C
ENST00000684157.1:n.5392T>C
ENST00000684253.1:n.4310T>C
ENST00000684288.1:c.*2364T>C	ENSP00000507143.1:n.*2364T>C
ENST00000684313.1:n.3839T>C
ENST00000684332.1:n.4480T>C
ENST00000684371.1:n.4513T>C
ENST00000684404.1:n.5435T>C
ENST00000684442.1:n.4631T>C
ENST00000684555.1:c.*2404T>C	ENSP00000507705.1:n.*2404T>C
ENST00000684571.1:c.4033T>C	ENSP00000506935.1:p.Phe1345Leu
ENST00000684593.1:c.*3897T>C	ENSP00000507005.1:n.*3897T>C
ENST00000684711.1:c.*2588T>C	ENSP00000506841.1:n.*2588T>C
ENST00000302539.9:c.4195T>C	ENSP00000303960.4:p.Phe1399Leu
ENST00000389817.8:c.4192T>C MANE Select	ENSP00000374467.4:p.Phe1398Leu
ENST00000642271.1:c.4189T>C	ENSP00000493749.1:p.Phe1397Leu
ENST00000642579.1:c.2246T>C
ENST00000642611.1:n.5277T>C
ENST00000642902.1:c.3974T>C
ENST00000643260.1:c.4192T>C	ENSP00000494450.1:p.Phe1398Leu
ENST00000643562.1:c.*2314T>C	ENSP00000496124.1:n.*2314T>C
ENST00000643925.1:c.2832T>C
ENST00000644057.1:n.269T>C
ENST00000644484.1:c.*3578T>C	ENSP00000493558.1:n.*3578T>C
ENST00000644675.1:c.*2364T>C	ENSP00000494567.1:n.*2364T>C
ENST00000644757.1:c.*3202+406T>C	ENSP00000495085.1:n.*3202+406T>C
ENST00000644772.1:c.4258T>C	ENSP00000494321.1:p.Phe1420Leu
ENST00000645004.1:n.1885T>C
ENST00000645076.1:c.3391T>C
ENST00000645417.1:c.1380T>C
ENST00000645744.1:c.*3957T>C	ENSP00000494564.1:n.*3957T>C
ENST00000645760.1:c.4613T>C
ENST00000645884.1:c.*1475T>C	ENSP00000495516.1:n.*1475T>C
ENST00000646003.1:c.*2294T>C	ENSP00000495259.1:n.*2294T>C
ENST00000646207.1:c.*3029T>C	ENSP00000495025.1:n.*3029T>C
ENST00000646276.1:c.*3596T>C	ENSP00000496070.1:n.*3596T>C
ENST00000646592.1:c.3498T>C
ENST00000646902.1:c.4159T>C	ENSP00000494101.1:p.Phe1387Leu
ENST00000646993.1:c.*2734T>C	ENSP00000493720.1:n.*2734T>C
ENST00000647013.1:c.4198T>C	ENSP00000496741.1:n.4198T>C
ENST00000647015.1:c.3943T>C	ENSP00000495389.1:p.Phe1315Leu
ENST00000647086.1:c.*3778T>C	ENSP00000493677.1:n.*3778T>C
ENST00000647158.1:c.*2479T>C	ENSP00000495744.1:n.*2479T>C
ENST00000302539.8:c.4195T>C	ENSP00000303960.4:p.Phe1399Leu
ENST00000389817.7:c.4192T>C	ENSP00000374467.3:p.Phe1398Leu
ENST00000525022.1:n.58T>C
ENST00000526168.5:c.60T>C
ENST00000531642.5:c.28T>C
NM_000352.4:c.4192T>C	NP_000343.2:p.Phe1398Leu
NM_001287174.1:c.4195T>C	NP_001274103.1:p.Phe1399Leu
XM_011520331.1:c.4192T>C	XP_011518633.1:p.Phe1398Leu
XM_011520332.1:c.4195T>C	XP_011518634.1:p.Phe1399Leu
XM_011520333.1:c.2692T>C	XP_011518635.1:p.Phe898Leu
XR_930890.1:n.4258T>C
NM_001351295.1:c.4258T>C	NP_001338224.1:p.Phe1420Leu
NM_001351296.1:c.4192T>C	NP_001338225.1:p.Phe1398Leu
NM_001351297.1:c.4189T>C	NP_001338226.1:p.Phe1397Leu
NR_147094.1:n.4487T>C
XM_017018197.2:c.4261T>C	XP_016873686.1:p.Phe1421Leu
XM_017018199.1:c.4258T>C	XP_016873688.1:p.Phe1420Leu
XM_017018201.2:c.4261T>C	XP_016873690.1:p.Phe1421Leu
XM_017018202.1:c.2758T>C	XP_016873691.1:p.Phe920Leu
XM_017018204.1:c.2149T>C	XP_016873693.1:p.Phe717Leu
XM_024448668.1:c.2560T>C	XP_024304436.1:p.Phe854Leu
XR_001747945.2:n.4333T>C
XR_001747946.2:n.4264T>C
XR_002957189.1:n.5914T>C
NM_000352.6:c.4192T>C MANE Select	NP_000343.2:p.Phe1398Leu
NM_001287174.2:c.4195T>C	NP_001274103.1:p.Phe1399Leu
NM_001351295.2:c.4258T>C	NP_001338224.1:p.Phe1420Leu
NM_001351296.2:c.4192T>C	NP_001338225.1:p.Phe1398Leu
NM_001351297.2:c.4189T>C	NP_001338226.1:p.Phe1397Leu
NR_147094.2:n.4487T>C
NM_001287174.3:c.4195T>C	NP_001274103.1:p.Phe1399Leu